Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis
Objective: We present molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis. Case report: A 33-year-old primigravid woman underwent amniocentesis at 18 week...
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Elsevier
2023-01-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922003539 |
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| author | Chih-Ping Chen Fang-Yu Hung Shin-Wen Chen Fang-Tzu Wu Yen-Ting Pan Peih-Shan Wu Schu-Rern Chern Chen-Chi Lee Meng-Shan Lee Wayseen Wang |
| author_facet | Chih-Ping Chen Fang-Yu Hung Shin-Wen Chen Fang-Tzu Wu Yen-Ting Pan Peih-Shan Wu Schu-Rern Chern Chen-Chi Lee Meng-Shan Lee Wayseen Wang |
| author_sort | Chih-Ping Chen |
| collection | DOAJ |
| description | Objective: We present molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis. Case report: A 33-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of a Down syndrome risk of 1/52 at the first-trimester maternal serum screening calculated from 0.29 multiples of the median (MoM) of pregnancy associated plasma protein-A (PAPP-A), 1.14 MoM of free β-hCG and 0.46 MoM of placental growth factor (PlGF). Amniocentesis revealed a karyotype of 45,X,add(8)(p23.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed a 137-Mb deletion of Xp22.13q28 and a 10.53-Mb deletion of 8p23.3p23.1. The karyotype thus was 45,X,der(8)t(X;8)(p22.13;p23.1). Prenatal ultrasound revealed pericardial effusion and skin edema. The pregnancy was subsequently terminated, and a 568-g malformed fetus was delivered with hypertelorism and low-set ears. The cord blood had a karyotype of 45,X,der(8)t(X;8)(p22.13;p23.1). aCGH analysis of the cord blood revealed the result of arr [GRCH37 (hg19)] 8p23.3p23.1 (191,530–10,724,642) × 1.0, arr Xp22.13q28 (18,194,098–155,232,907) × 1.0. Conclusion: aCGH analysis is useful elucidating the genetic nature of an aberrant chromosome with an additional maternal of unknown origin attached to a chromosome terminal region. |
| first_indexed | 2024-04-10T19:06:08Z |
| format | Article |
| id | doaj.art-e585afb1676046c4965f0fe5ce1ed6d0 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-10T19:06:08Z |
| publishDate | 2023-01-01 |
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| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-e585afb1676046c4965f0fe5ce1ed6d02023-01-31T04:08:23ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592023-01-01621128131Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesisChih-Ping Chen0Fang-Yu Hung1Shin-Wen Chen2Fang-Tzu Wu3Yen-Ting Pan4Peih-Shan Wu5Schu-Rern Chern6Chen-Chi Lee7Meng-Shan Lee8Wayseen Wang9Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan; Corresponding author. Department of Obstetrics and Gynecology, MacKay Memorial Hospital, 92, Section 2, Chung-Shan North Road, Taipei 10449, Taiwan. Fax: +886-2-25433642, +886-2-25232448.Department of Obstetrics and Gynecology, Hsinchu MacKay Memorial Hospital, Hsinchu, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanGene Biodesign Co. Ltd, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, Taipei, TaiwanObjective: We present molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis. Case report: A 33-year-old primigravid woman underwent amniocentesis at 18 weeks of gestation because of a Down syndrome risk of 1/52 at the first-trimester maternal serum screening calculated from 0.29 multiples of the median (MoM) of pregnancy associated plasma protein-A (PAPP-A), 1.14 MoM of free β-hCG and 0.46 MoM of placental growth factor (PlGF). Amniocentesis revealed a karyotype of 45,X,add(8)(p23.1). The parental karyotypes were normal. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from cultured amniocytes revealed a 137-Mb deletion of Xp22.13q28 and a 10.53-Mb deletion of 8p23.3p23.1. The karyotype thus was 45,X,der(8)t(X;8)(p22.13;p23.1). Prenatal ultrasound revealed pericardial effusion and skin edema. The pregnancy was subsequently terminated, and a 568-g malformed fetus was delivered with hypertelorism and low-set ears. The cord blood had a karyotype of 45,X,der(8)t(X;8)(p22.13;p23.1). aCGH analysis of the cord blood revealed the result of arr [GRCH37 (hg19)] 8p23.3p23.1 (191,530–10,724,642) × 1.0, arr Xp22.13q28 (18,194,098–155,232,907) × 1.0. Conclusion: aCGH analysis is useful elucidating the genetic nature of an aberrant chromosome with an additional maternal of unknown origin attached to a chromosome terminal region.http://www.sciencedirect.com/science/article/pii/S1028455922003539Distal 8p deletionMaternal serum screeningPrenatal diagnosisX;autosome translocationXp and Xq deletion |
| spellingShingle | Chih-Ping Chen Fang-Yu Hung Shin-Wen Chen Fang-Tzu Wu Yen-Ting Pan Peih-Shan Wu Schu-Rern Chern Chen-Chi Lee Meng-Shan Lee Wayseen Wang Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis Taiwanese Journal of Obstetrics & Gynecology Distal 8p deletion Maternal serum screening Prenatal diagnosis X;autosome translocation Xp and Xq deletion |
| title | Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis |
| title_full | Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis |
| title_fullStr | Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis |
| title_full_unstemmed | Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis |
| title_short | Molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23.3p23.1 and Xp and Xq deletion of Xp22.13q28 due to an unbalanced X;8 translocation detected by amniocentesis |
| title_sort | molecular cytogenetic characterization of de novo concomitant distal 8p deletion of 8p23 3p23 1 and xp and xq deletion of xp22 13q28 due to an unbalanced x 8 translocation detected by amniocentesis |
| topic | Distal 8p deletion Maternal serum screening Prenatal diagnosis X;autosome translocation Xp and Xq deletion |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922003539 |
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